A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3581716



Internal ID18709914
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:68040404..68049222hg38UCSC Ensembl
Innerchr12:68434184..68443002hg19UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg388819
hg198819
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9801459
Samples400523GB
Known Genes
MethodSNP array
AnalysisWe used four separate algorithms to detect CNVs; Affymetrix Chromosome Analysis Suite (ChAS), iPattern, Nexus and Partek. Our primary analysis was performed based on ChAS CNV calls, which were then supported using the remaining three algorithms to construct a confidence set of CNVs. For all algorithms, we have used 8 probes and >1kb as a base line cutoff for CNV detection.
PlatformAffymetrix CytoScan HD 2.7M array
Comments
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)esv3581716
Frequency
Sample Size873
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer